{
    "disease_id": "DOID:13270",
    "recommended_name": {
        "id": "DOID:13270",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:13270",
        "name": "erythropoietic protoporphyria",
        "description": "An acute porphyria characterized by a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the tissue."
    },
    "synonyms": [
        {
            "id": "DOID:13270",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:13270",
            "name": "EPP",
            "description": ""
        },
        {
            "id": "DOID:13270",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:13270",
            "name": "Erythropoietic protoporphyria",
            "description": ""
        },
        {
            "id": "DOID:13270",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:13270",
            "name": "Protoporphyria",
            "description": ""
        },
        {
            "id": "MONDO:0008319",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008319",
            "name": "protoporphyria, erythropoietic",
            "description": "A rare congenital metabolic disorder characterized by an inborn error of porphyrin-heme biosynthesis. It is caused by deficiency of the enzyme ferrochelatase. Signs and symptoms include painful cutaneous photosensitivity leading to blistering and scarring of the exposed skin areas, erythrodontia, red discoloration of urine, hemolytic anemia, and splenomegaly."
        },
        {
            "id": "MONDO:0008319",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008319",
            "name": "Erythrohepatic protoporphyria",
            "description": ""
        },
        {
            "id": "MONDO:0008319",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008319",
            "name": "protoporphyria, erythropoietic; EPP",
            "description": ""
        },
        {
            "id": "MONDO:0008319",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008319",
            "name": "protoporphyria, erythropoietic",
            "description": ""
        },
        {
            "id": "MONDO:0008319",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008319",
            "name": "erythropoietic protoporphyria",
            "description": ""
        },
        {
            "id": "MONDO:0008319",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008319",
            "name": "heme synthetase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008319",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008319",
            "name": "ferrochelatase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008319",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008319",
            "name": "EPP",
            "description": ""
        },
        {
            "id": "MONDO:0010420",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010420",
            "name": "X-linked erythropoietic protoporphyria",
            "description": "X-linked form of erythropoietic protoporphyria."
        },
        {
            "id": "MONDO:0010420",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010420",
            "name": "XLPP",
            "description": ""
        },
        {
            "id": "MONDO:0010420",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010420",
            "name": "X-linked dominant protoporphyria",
            "description": ""
        },
        {
            "id": "MONDO:0010420",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010420",
            "name": "protoporphyria, erythropoietic, X-linked dominant",
            "description": ""
        },
        {
            "id": "MONDO:0010420",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010420",
            "name": "X-linked dominant erythropoietic protoporphyria",
            "description": ""
        },
        {
            "id": "MONDO:0010420",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010420",
            "name": "XLDPP",
            "description": ""
        },
        {
            "id": "MONDO:0010420",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010420",
            "name": "protoporphyria, erythropoietic, X-linked; XLEPP",
            "description": ""
        },
        {
            "id": "MONDO:0010420",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010420",
            "name": "XLEPP",
            "description": ""
        },
        {
            "id": "MONDO:0010420",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010420",
            "name": "protoporphyria, erythropoietic, X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010420",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010420",
            "name": "XLP",
            "description": ""
        },
        {
            "id": "MONDO:0010420",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010420",
            "name": "erythropoietic protoporphyria, X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010420",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010420",
            "name": "Erythrohepatic protoporphyria, X-linked",
            "description": ""
        },
        {
            "id": "MIM:177000",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/177000",
            "name": "Protoporphyria, erythropoietic, 1",
            "description": "Protoporphyria, erythropoietic, 1"
        },
        {
            "id": "MIM:300752",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300752",
            "name": "Erythropoietic protoporphyria, X-linked dominant",
            "description": "Erythropoietic protoporphyria, X-linked dominant"
        }
    ]
}